Detalhe da pesquisa
1.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Ann Neurol
; 92(1): 122-137, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35411967
2.
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
Am J Hum Genet
; 97(5): 726-37, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26456284
3.
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Am J Hum Genet
; 94(2): 268-77, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24388663
4.
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
Am J Hum Genet
; 92(2): 238-44, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332916
5.
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
Am J Hum Genet
; 93(1): 118-23, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746551
6.
CIC inactivating mutations identify aggressive subset of 1p19q codeleted gliomas.
Ann Neurol
; 78(3): 355-74, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26017892
7.
The impact of rare variants in FUS in essential tremor.
Mov Disord
; 30(5): 721-4, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25631824
8.
TP53 and p53 statuses and their clinical impact in diffuse low grade gliomas.
J Neurooncol
; 118(1): 131-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24590827
9.
Mutations in KCND3 cause spinocerebellar ataxia type 22.
Ann Neurol
; 72(6): 859-69, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23280837
10.
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.
PLoS Biol
; 8(6): e1000408, 2010 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-20613862
11.
Gene expression of circadian genes and CIART in bipolar disorder: A preliminary case-control study.
Prog Neuropsychopharmacol Biol Psychiatry
; 122: 110691, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36481223
12.
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Hum Mutat
; 32(10): 1118-27, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21618648
13.
Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.
Ophthalmology
; 118(3): 564-73, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21035867
14.
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.
Neurogenetics
; 11(4): 441-8, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20593214
15.
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
J Neurol Neurosurg Psychiatry
; 81(11): 1229-32, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20667868
16.
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
Hum Mutat
; 30(2): E376-85, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18853458
17.
Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.
Mov Disord
; 26(9): 1777-9, 2011 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21442655
18.
Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
Neurology
; 84(7): 659-67, 2015 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25609768
19.
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
Neurology
; 84(17): 1751-9, 2015 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25841024
20.
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.
Neurology
; 83(11): 990-5, 2014 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25098532